Article
Compromised function in the Na(v)1.2 Dravet syndrome mutation R1312T.
Neurobiology of disease - 1 Sept 2012
Lossin Christoph, Shi Xiuyu, Rogawski Michael A, Hirose Shinichi
Abstract excerpt
Ion channels, specifically voltage-gated sodium channels (Na(v)s), are common culprits in inheritable seizure disorders. Some Na(v) isoforms are particularly susceptible, while others are only weakly associated with neuronal hyperexcitability. Representative of the latter group is Na(v)1.2 (gene name SCN2A): despite its abundance in the brain, Na(v)1.2-related epilepsy is rare and only few studies have been...
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